Variant report

Variant	rs1877119
Chromosome Location	chr8:8707197-8707198
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8705274..8707873-chr8:8797138..8799236,2	K562	blood:
2	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1039917	0.84[CEU][hapmap]
rs11249896	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13259070	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1510934	0.96[CEU][hapmap];0.88[CHB][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1964719	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2409096	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3925830	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3958877	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4841054	0.82[CHB][hapmap]
rs7013471	0.85[CEU][hapmap]
rs7820146	0.84[EUR][1000 genomes]
rs7820738	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833171	0.84[EUR][1000 genomes]
rs907180	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907181	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1877119	SGK223	cis	Thyroid	GTEx
rs1877119	CTSB	cis	cerebellum	SCAN
rs1877119	FLJ10661	cis	cerebellum	SCAN
rs1877119	MFHAS1	cis	cerebellum	SCAN
rs1877119	PRSS55	cis	cerebellum	SCAN
rs1877119	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs1877119	C8orf13	cis	multi-tissue	Pritchard
rs1877119	CLDN23	cis	multi-tissue	Pritchard
rs1877119	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
3	chr8:8700000-8707400	Enhancers	Fetal Thymus	thymus
4	chr8:8700200-8707400	Enhancers	Fetal Kidney	kidney
5	chr8:8700200-8708000	Weak transcription	Spleen	Spleen
6	chr8:8701000-8707800	Enhancers	Fetal Intestine Large	intestine
7	chr8:8701400-8708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:8702400-8708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:8702400-8708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:8702400-8708200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:8702400-8708400	Weak transcription	NH-A	brain
14	chr8:8702400-8709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:8702400-8713600	Weak transcription	Gastric	stomach
16	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
17	chr8:8703200-8709400	Weak transcription	Psoas Muscle	Psoas
18	chr8:8703600-8713600	Weak transcription	Brain Substantia Nigra	brain
19	chr8:8704000-8707400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:8704200-8709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:8704400-8708400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:8705000-8707600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:8705000-8708200	Weak transcription	HSMM	muscle
24	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:8705200-8707400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:8705200-8709600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:8705400-8707400	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:8705400-8707600	Enhancers	Fetal Lung	lung
29	chr8:8705600-8708800	Enhancers	Primary B cells from cord blood	blood
30	chr8:8705800-8708000	Weak transcription	HSMMtube	muscle
31	chr8:8705800-8708400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:8705800-8708800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:8705800-8709400	Weak transcription	Right Ventricle	heart
34	chr8:8705800-8713600	Weak transcription	Aorta	Aorta
35	chr8:8705800-8716800	Weak transcription	Dnd41	blood
36	chr8:8706000-8708000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:8706000-8708000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:8706000-8708000	Weak transcription	Right Atrium	heart
39	chr8:8706000-8708400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:8706000-8708400	Weak transcription	Fetal Heart	heart
41	chr8:8706000-8710600	Enhancers	Stomach Mucosa	stomach
42	chr8:8706200-8707200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:8706200-8707200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:8706200-8707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:8706200-8709600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:8706200-8709800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:8706200-8713600	Weak transcription	Fetal Brain Female	brain
48	chr8:8706200-8714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:8706200-8717400	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:8706200-8717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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